Science Made Possible by You: Research Updates from the Michaelson LabVolume 2 | Issue 1

Our research participants are important to us. We want to make sure that you are kept up to date with the research happening in our lab, and how your participation helps to move science forward!

Cutting Edge Research

New to the University of Iowa Healthcare (UIHC) System:

UIHC is proud to announce the launch of a comprehensive neurodevelopmental registry! This registry is open to anyone who has a professional diagnosis of a neurodevelopmental condition - such as intellectual disability, attention-deficit/hyperactivity disorder, or a learning disorder - and has received services through the UIHC system. The information collected in this registry will be shared with researchers who are finding ways to improve the treatment and understanding of such disorders. Your healthcare providers can access your data if they think it would be helpful in addressing your healthcare needs too!

Patients who choose to participate may conveniently access the registry online and fill out basic personal and demographic information, as well as answer questions relevant to their diagnosis. With permission from the participant, the registry will also compile other pertinent information from their medical record. This will help match individuals to active and approved research projects. Participants will be compensated.

Become a Citizen Scientist in the Waiting Room:

Recently, Dr. Michaelson was interviewed by a UI journalism student about how registries, such as this one for neurodevelopment, create the momentum needed to speed up research! See his answers below:

"A lot of our patients participate in research -- that's one of the unique opportunities that comes with receiving care at an academic medical center. Jodi Tate, who leads our department's clinical operations, had a really brilliant idea to try and bridge the gap between research and clinical care: what if our providers could make use of research results in informing clinical care? Usually it's a one-way street, and researchers are able to access their participants' medical records, but rarely do clinicians have access to findings that come from their patients' participation in research. The hope is that the additional insight provided by research results will inform and improve the quality of clinical care.

Of course, in some instances, there are sensitive forms of information produced by research, like genetic findings. Our research protocols prevent us from putting specific genetic findings into the medical record. But where possible, and where the participant gives informed consent, we want everyone in the participant-provider-researcher relationship to benefit from productive and appropriately regulated sharing of information.

So, providers, who may not typically participate in research, will gain additional insight, and patients will hopefully see more of a return on their invested time in research, as it becomes another data point that informs and improves their care."

"Usually research is based around a specific diagnosis: autism, or Tourette syndrome, for instance. But nature doesn't respect our man-made boundaries, and anyone who lives with a neurodevelopmental disorder knows that they don't fit into our neatly defined boxes. There is a lot of overlap between disorders, and we can't understand that overlap if we focus too much on a specific diagnostic label. So, one of the goals of the registry is to standardize or align how individuals are assessed in the clinic, so that the data we have is more uniform across disorders. This removes a lot of barriers to doing cross-disorder research.

Another goal is to increase the translational potential of research findings. A lot of the data we and others collect ends up in publications, but we would like to do more to get that data into the hands of the participants themselves, and to do it in a way that provides context and value. This registry is a first step in that direction."

"First, it gets researchers and clinicians talking to each other, which is always a good thing.

Second, by having a central registry we hope to provide more opportunities for our patients to participate in research. On the other hand, we want to decrease the burden of participating by reducing the number of times a patient has to provide the same information. I am both a researcher and a frequent research participant, and I am very familiar with the frustration of: "didn't I already fill all this out?"

Finally, this registry is important because it raises awareness about the need for the community to play an active role, through participation in research, in building the knowledgebase we need to develop better treatment options."

New to the Michaelson Lab:

We at the Michaelson Lab are proud to announce that we are partnering with the UI Belin-Blank Center and the Iowa Neuroscience Institute to launch a study on twice-exceptionality (2e)! This study is the first of its kind – it is unique to the University of Iowa!

What makes someone twice exceptional?

Having an IQ at or above the 90th percentile is our working definition of giftedness. If, in addition to being “gifted”, an individual has been diagnosed with a neurodevelopmental condition, he or she is considered to be twice-exceptional. For the purposes of this study, we will be recruiting individuals diagnosed with autism and typically-developing controls, both of whom are “gifted”.

What does “gifted” mean within the context of this study? Individuals who fall within one of the following categories is eligible to participate:

those who received a standardized IQ score at or above the 90th percentile

those who participated in a "gifted and talented" program

those who received an accelerated education, such as advanced coursework or skipping grades

Why study twice-exceptionality?

This study is a new frontier in autism research with a holistic approach to data collection that will help to explain differences in the ability levels of autism, and also what factors contribute to high ability in typically developing kids.

Data to be collected includes: psychological assessment scores, behavioral information, family & medical histories, newborn screening results, genetic samples, and brain images. Study participants will enroll in devGenes and SPARK as a part of the data collection process.

Interested in learning more? Contact Lucas at info@devgenes.org or watch for a special feature article to be published by NPR!

Why Genetic Research is Important: Podcast with Dr. Jake Michaelson

Dr. Michaelson recently sat down with Dr. Paul Bromann, the host of the Ilumina Genomics Podcast - a series of interviews in which leading scientists discuss their genomics research and how such research affects the way we think about science, medicine, and nature.

In this brief interview, Jake talks about the implications of psychiatric genomic research on our understanding of human biology, developing treatments, and influencing society.

New to the devGenes Team

Taylor Kalmus, B.S. - Clinical Research Assistant

Taylor recently graduated from Carroll University with dual degrees in Biology & Psychology. Her research interests include investigating the biological basis of neurodevelopmental conditions, such as autism and ADHD, and how potential differences in biology affects the cognitive abilities of diagnosed individuals. Her goals are to explore the biopsychological context of these conditions so that evidence-based interventions can be developed. Her position as a SPARK coordinator allows her to readily explore these interests!

Lucas Casten, B.A. - Clinical Research Assistant

Lucas recently graduated with a degree in Psychology with an emphasis in Behavioral Neuroscience from Cornell College. He is helping to pilot a new study in the lab on the genetics of twice-exceptionality (2e). His research interests include the interaction of biological and environmental factors on cognitive functioning, especially within neurodevelopmental conditions. This makes him the ideal person to help launch our 2e project!

devGenes Updates

We are still actively sequencing and analyzing the DNA samples of the 900+ affected individuals and family members enrolled in devGenes to date. We are starting to discover some interesting results through this process, such as observed in one spin-off study from devGenes on masculinity.

Masculinity – Why measure it?

One proposed contributing factor to autism is the idea of the extreme male brain(1), a theory popularized by Dr. Simon Baron-Cohen that argues for sex differences in the ability to empathize and to systemize. In particular, this theory suggests that, on average, male brains are more adept at categorizing than empathizing; the average female brain is considered to be the opposite. Autism as a variation of an extreme male brain is an on-going debate in the research community; some scientists have found data that support it, whereas others could not find data in support of it.

However, a phenomenon does exist that is known as the female protective effect(2) in which males are more frequently diagnosed with neurodevelopmental conditions than their female counterparts. This effect has strong scientific backing and is readily observed in autism, which has a male to female ratio of 3:1(3).

So, we do know that sex differences in neurodevelopment do exist, even if we do not yet completely understand how or why these differences occur. If we understood more about the biology that protects females from neurodevelopmental disorders, we would be in a better position to develop treatments that work.

Goals:

Our goal for this project is to determine whether or not it is possible to predict an individual’s affected status – in this case, whether he or she has autism or not – based upon physical features that may be genetically linked to such conditions. Specifically, it is thought that differences in features such as facial structure (the distance from the corner of your mouth to the corner of your eye, as one example) or walking pattern may result from the same changes in genes that contribute to the behavior itself.

Hypothesis:

We predicted that personal features with a higher masculinity score - regardless of the person’s sex – would occur more frequently in affected persons than their typically developing family members.

Methods:

To this end, we used machine learning (popularly called “artificial intelligence”) to detect small differences in facial structure from facial photographs of devGenes participants between males and females. This gave us a score between 0 and 1 that indicated the computer’s confidence in the prediction of a person being a male. These values were adjusted to consider factors such as participant age and sex, and after this correction is applied, the score can be considered an objective measure of masculinity that is independent of the person’s actual sex. Both males and females have varying degrees of masculinity reflected in the structure of their face.

These are the five most feminine (top) and five most masculine faces (bottom) in our study, as ranked by our computer program. Can you spot the differences?

Results:

We found the same effect for both males and females: a facial structure with a higher masculinity score is associated with increasing symptom severity and specifically increased social deficits.

As facial masculinity increases (as determined by a computer program), so does the risk of autism. This is true for both males and females.

What does this mean?

devGenes participants were more likely have been diagnosed with autism if their facial structure gives an increased masculinity score, as assigned by our computer model. In addition, individuals with more severe symptoms of autism – both male and female - were also assigned a higher masculinity score by our algorithm. This supports the idea that sex characteristics can reflect an individual’s level of autism risk.

Moving forward – What’s next?

We are still in the process of mapping these masculinity scores back to the genome of participants in order to discover what genes play a role and why.

Have questions or comments about this research? Feel free to contact us at (319) 335 - 8882, or info@devgenes.org.

SPARK for Autism Updates

The goal of SPARK remains the same: Speed up research and advance our understanding of autism by creating the nation’s largest study of ASD. To date, just shy of 14,000 families have submitted their saliva samples for sequencing nationwide. We are ecstatic with this progress – we’re already learning so much! However, we will learn so much more once we reach our goal of 50,000 families.

As a part of their enrollment in SPARK, families share genetic and behavioral data. If you or a loved one have a professional diagnosis of autism and are interested in participating, you can register here:

Lab Introduction Video

We at UIowa are just one of 25 different sites that make up the SPARK for Autism network. We put together a brief clip to reintroduce ourselves at the SPARK national meeting in June. Come on and ride on the magic school bus with us!

New Data Released:

SPARK Snapshot II, a summary of survey results for all adults with ASD enrolled in SPARK, became publicly available on September 21st. If you’re interested in receiving a copy, please let us know!

SPARK continues to offer monthly webinars on a wide range of topics:

You can preregister for any webinar at https://sparkforautism.org/discover/. All webinars will be publicly available on YouTube following each event.

The October 2018 webinar titled "What SPARK Gives Back to Participants"is scheduled for 10/31 at 11 am CST.

The November 2018 webinar titled "Making Friends" is scheduled for 11/28 at 11 am CST.

We are here to help! Contact us at (319) 335-8882 or SPARK-study@uiowa.edu with any questions.

Upcoming Events

Interested in participating on-site? Want to have fun while learning more about our research? Join us at an upcoming recruitment event!

SPARK at Spirit Taekwondo | Tuesday, October 23rd | 4:00 pm – 6:00 pm

110 N Ankeny Blvd #300, Ankeny, IA 50023

The Michaelson lab is partnering with Spirit Taekwondo to bring fun (and science!) to families in the Greater Des Moines area. Kids with a professional diagnosis of autism can join Amy, the owner of Spirit, in a free introductory adaptive taekwondo class while their folks can discuss SPARK, additional research opportunities, and local autism resources with the Michaelson lab. Please contact Taylor at SPARK-study@uiowa.edu with questions.

Spots are limited! Families can learn more or register for the event at:

The Michaelson lab will be returning to Boo at the Barn, a free, annual Halloween celebration that is hosted by Miracles in Motion. Activities for children include games, face painting, treats and more! We will be hosting a creepy craft table where you can learn how to build a brain from everyday items that feels like a real brain! Creepy, indeed! Families will also be able to learn about research opportunities with the University of Iowa. Please contact Natalie at info@devgenes.org with questions.

The Michaelson lab will be hosting a table at the Autism Society of Iowa’s fall conference. You can find us amongst a robust community of resources, tools, and research. The keynote speaker is Stephen Shore, PhD, a professor of special education who is on the spectrum himself. Stop by our table to say hello, connect with others in the autism community, and learn more about local resources!

In order to learn more about the event and to register, you can go to: